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Aliases for COPS3 Gene

Aliases for COPS3 Gene

  • COP9 Signalosome Subunit 3 2 3 5
  • JAB1-Containing Signalosome Subunit 3 3 4
  • Signalosome Subunit 3 3 4
  • CSN3 3 4
  • SGN3 3 4
  • COP9 (Constitutive Photomorphogenic, Arabidopsis, Homolog) Subunit 3 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 3 (Arabidopsis) 2
  • COP9 Constitutive Photomorphogenic Homolog Subunit 3 3
  • COP9 Signalosome Complex Subunit 3 3
  • COP9 Complex Subunit 3 3

External Ids for COPS3 Gene

Previous GeneCards Identifiers for COPS3 Gene

  • GC17M017465
  • GC17M018509
  • GC17M017093
  • GC17M017350
  • GC17M017090
  • GC17M016903
  • GC17M017151

Summaries for COPS3 Gene

Entrez Gene Summary for COPS3 Gene

  • The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for COPS3 Gene

COPS3 (COP9 Signalosome Subunit 3) is a Protein Coding gene. Diseases associated with COPS3 include Smith-Magenis Syndrome and Xeroderma Pigmentosum, Complementation Group E. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Clathrin-mediated endocytosis.

UniProtKB/Swiss-Prot for COPS3 Gene

  • Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively.

Gene Wiki entry for COPS3 Gene

Additional gene information for COPS3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COPS3 Gene

Genomics for COPS3 Gene

GeneHancer (GH) Regulatory Elements for COPS3 Gene

Promoters and enhancers for COPS3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J017279 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 661.1 +0.4 394 2.6 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B E2F8 COPS3 PIR47486 PIR50772 FLCN NT5M DRG2 LOC644422 MPRIP-AS1 MPRIP FLII
GH17J017040 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.2 +237.4 237439 6.1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 MPRIP GC17P017048 PIR43427 PIR46780 GC17P017043 MPRIP-AS1 PIGL NCOR1 FLCN PLD6
GH17J017203 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 8.2 +75.9 75895 4.1 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 PLD6 FLCN LOC100419436 NT5M UPF3AP1 RAI1 COPS3 PIR44036 ENSG00000264187 MPRIP
GH17J017302 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 7.9 -23.1 -23077 3.7 PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 TCF12 POLR2B ZNF766 NT5M DRG2 FLII LOC644422 FLCN COPS3 PLD6 GC17M017313
GH17J017351 Enhancer 1.1 Ensembl ENCODE 11.1 -70.9 -70914 2.3 ATF1 FOXA2 ETS1 GLIS2 FOS ATF7 SP5 GTF2B ZNF592 KAT8 DRG2 MED9 COPS3 RPL13P12 LRRC75A-AS1 SMCR8 TOP3A GC17P017341
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COPS3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COPS3 gene promoter:
  • p53
  • CREB
  • p300
  • NRF-2
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C

Genomic Locations for COPS3 Gene

Genomic Locations for COPS3 Gene
chr17:17,246,624-17,281,303
(GRCh38/hg38)
Size:
34,680 bases
Orientation:
Minus strand
chr17:17,149,938-17,184,617
(GRCh37/hg19)
Size:
34,680 bases
Orientation:
Minus strand

Genomic View for COPS3 Gene

Genes around COPS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COPS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COPS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COPS3 Gene

Proteins for COPS3 Gene

  • Protein details for COPS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNS2-CSN3_HUMAN
    Recommended name:
    COP9 signalosome complex subunit 3
    Protein Accession:
    Q9UNS2
    Secondary Accessions:
    • B2R683
    • B4DY81
    • O43191
    • Q7LDR6

    Protein attributes for COPS3 Gene

    Size:
    423 amino acids
    Molecular mass:
    47873 Da
    Quaternary structure:
    • Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COPS6, COPS7 (COPS7A or COPS7B), COPS8 and COPS9 isoform 1 (PubMed:18850735, PubMed:26456823). In the complex, it probably interacts directly with COPS1, COPS4, COPS8 and COPS9 isoform 1 (PubMed:18850735, PubMed:26456823). Interacts with CK2 and PKD (PubMed:12628923). Interacts with the translation initiation factor EIF3S6 and IKBKG (PubMed:11418127, PubMed:12220626).
    Miscellaneous:
    • Amplified and overexpressed in some osteosarcomas (OS), suggesting that it may participate in TP53 degradation in OS.
    SequenceCaution:
    • Sequence=AAC14197.1; Type=Frameshift; Positions=5; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COPS3 Gene

    Alternative splice isoforms for COPS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COPS3 Gene

Post-translational modifications for COPS3 Gene

  • Ubiquitination at Lys406, Lys391, Lys382, Lys366, Lys312, Lys296, posLast=281281, posLast=254254, Lys243, posLast=125125, and posLast=3030
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COPS3 Gene

Domains & Families for COPS3 Gene

Gene Families for COPS3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for COPS3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UNS2

UniProtKB/Swiss-Prot:

CSN3_HUMAN :
  • Belongs to the CSN3 family.
Family:
  • Belongs to the CSN3 family.
genes like me logo Genes that share domains with COPS3: view

Function for COPS3 Gene

Molecular function for COPS3 Gene

UniProtKB/Swiss-Prot Function:
Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively.
GENATLAS Biochemistry:
COP9 (constitutive photomorphogenic,Arabidopsis) homolog subunit 3,ubiquitously expressed,predominantly in cardiac and skeletal muscle,involved in signal transduction,within the Smith-Magenis critical region

Phenotypes From GWAS Catalog for COPS3 Gene

Gene Ontology (GO) - Molecular Function for COPS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 10766246
genes like me logo Genes that share ontologies with COPS3: view
genes like me logo Genes that share phenotypes with COPS3: view

Animal Models for COPS3 Gene

MGI Knock Outs for COPS3:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COPS3 Gene

Localization for COPS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COPS3 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COPS3 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COPS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm TAS 9535219
GO:0005829 cytosol IDA,TAS --
GO:0008180 COP9 signalosome IEA,IDA 18850735
genes like me logo Genes that share ontologies with COPS3: view

Pathways & Interactions for COPS3 Gene

genes like me logo Genes that share pathways with COPS3: view

SIGNOR curated interactions for COPS3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for COPS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000338 protein deneddylation IDA 19141280
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0001701 in utero embryonic development IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006511 ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with COPS3: view

Drugs & Compounds for COPS3 Gene

No Compound Related Data Available

Transcripts for COPS3 Gene

Unigene Clusters for COPS3 Gene

COP9 signalosome subunit 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COPS3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - -
SP5: -
SP6: - -
SP7: - - - - - -
SP8:
SP9: - - -
SP10: -
SP11: - -
SP12:

ExUns: 14b · 14c · 14d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for COPS3 Gene

GeneLoc Exon Structure for
COPS3
ECgene alternative splicing isoforms for
COPS3

Expression for COPS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COPS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COPS3 Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COPS3 Gene



Protein tissue co-expression partners for COPS3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COPS3 Gene:

COPS3

SOURCE GeneReport for Unigene cluster for COPS3 Gene:

Hs.6076

mRNA Expression by UniProt/SwissProt for COPS3 Gene:

Q9UNS2-CSN3_HUMAN
Tissue specificity: Widely expressed. Expressed at high level in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for COPS3 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Blood(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with COPS3: view

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for COPS3 Gene

Orthologs for COPS3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COPS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COPS3 34 33
  • 99.76 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COPS3 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COPS3 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COPS3 34 33
  • 93.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cops3 16 34 33
  • 91.88 (n)
rat
(Rattus norvegicus)
Mammalia Cops3 33
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia COPS3 34 33
  • 86.6 (n)
OneToOne
chicken
(Gallus gallus)
Aves COPS3 34 33
  • 87.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COPS3 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cops3 33
  • 82.27 (n)
Str.11176 33
African clawed frog
(Xenopus laevis)
Amphibia cops3-prov 33
zebrafish
(Danio rerio)
Actinopterygii cops3 34 33
  • 78.41 (n)
OneToOne
wufk59f01 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.684 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006445 33
  • 57.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CSN3 34 35 33
  • 56.24 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea csn-3 34
  • 19 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons COP13 33
  • 48.92 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7012 33
rice
(Oryza sativa)
Liliopsida Os08g0119000 33
  • 52.45 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.2898 33
sea squirt
(Ciona savignyi)
Ascidiacea Cin.1915 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1915 33
Species where no ortholog for COPS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for COPS3 Gene

ENSEMBL:
Gene Tree for COPS3 (if available)
TreeFam:
Gene Tree for COPS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COPS3: view image

Paralogs for COPS3 Gene

Pseudogenes.org Pseudogenes for COPS3 Gene

genes like me logo Genes that share paralogs with COPS3: view

No data available for Paralogs for COPS3 Gene

Variants for COPS3 Gene

Sequence variations from dbSNP and Humsavar for COPS3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000022699 -- 17,279,982(-) T/C intron_variant
rs1000181907 -- 17,249,486(-) G/C intron_variant
rs1000292884 -- 17,276,413(-) C/T intron_variant
rs1000385602 -- 17,255,237(-) T/C intron_variant
rs1000406382 -- 17,276,130(-) C/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for COPS3 Gene

Variant ID Type Subtype PubMed ID
esv3640124 CNV gain 21293372
nsv155 OTHER inversion 15895083
nsv469777 CNV gain 16826518
nsv499114 OTHER inversion 21111241
nsv833380 CNV loss 17160897
nsv833382 CNV loss 17160897
nsv9499 CNV gain 18304495

Variation tolerance for COPS3 Gene

Residual Variation Intolerance Score: 21.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COPS3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COPS3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COPS3 Gene

Disorders for COPS3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COPS3 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search COPS3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COPS3

genes like me logo Genes that share disorders with COPS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COPS3 Gene

Publications for COPS3 Gene

  1. Association of the mammalian proto-oncoprotein Int-6 with the three protein complexes eIF3, COP9 signalosome and 26S proteasome. (PMID: 12220626) Hoareau Alves K … Jalinot P (FEBS letters 2002) 3 4 22 58
  2. Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2. (PMID: 10191102) Potocki L … Lupski JR (Genomics 1999) 2 3 4 58
  3. A novel protein complex involved in signal transduction possessing similarities to 26S proteasome subunits. (PMID: 9535219) Seeger M … Dubiel W (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1998) 2 3 4 58
  4. CSNAP Is a Stoichiometric Subunit of the COP9 Signalosome. (PMID: 26456823) Rozen S … Sharon M (Cell reports 2015) 3 4 58
  5. Characterization of the human COP9 signalosome complex using affinity purification and mass spectrometry. (PMID: 18850735) Fang L … Huang L (Journal of proteome research 2008) 3 4 58

Products for COPS3 Gene

Sources for COPS3 Gene

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